Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.78223510G>TCA401214791BIRC5c.385G>T (p.Glu129Ter)
c.454G>T (p.Glu152Ter)
c.267G>T (p.Arg89=)
n.401G>T
c.*187G>T (n.*187G>T)
n.587G>T
n.656G>T
dbSNP
17g.78223510G>CCA401214788BIRC5c.385G>C (p.Glu129Gln)
c.454G>C (p.Glu152Gln)
c.267G>C (p.Arg89=)
n.401G>C
c.*187G>C (n.*187G>C)
n.587G>C
n.656G>C
dbSNP gnomAD v4
17g.78223510G>ACA8798632BIRC5c.385G>A (p.Glu129Lys)
c.454G>A (p.Glu152Lys)
c.267G>A (p.Arg89=)
n.401G>A
c.*187G>A (n.*187G>A)
n.587G>A
n.656G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched